Rare Disease Day: How 3.5 Million People in UK Face Having Illnesses Undiagnosed for Years

Today is the sixth annual Rare Disease Day, a global initiative launched to raise awareness of the 6,000 illnesses that affect 60 million people in the US and Europe alone.

In the UK, an estimated 3.5 million people suffer from a rare disease and often their condition can take years to diagnose.

A report by Rare Disease UK has found that those living with rare diseases face huge problems; they have little information or support, and there are issues with access to services.

Almost one in three live for two years with their disease before they get an accurate diagnosis, with one in five having to wait over five years.

The waiting time can cause huge problems which could otherwise be prevented by quicker diagnosis. One patient with Churg-Strauss syndrome explained: "My limbs are paralysed and I need full time care. This could have been avoided by prompt diagnoses."

Seventy five percent of rare diseases affect children. Thirty percent of these will not live to see their fifth birthday.

Having a better chance

Rare Disease Day aims to bring together rare disease expertise so sufferers may have a better chance of having their illness identified quickly.

It is looking to rally the international community; healthcare policies and social services to standardise the approach to rare diseases, and promulgate best practice internationally.

To mark Rare Disease Day, events are being held in 60 countries and regions across the world, including all 27 European Union Member States.

In the UK, parliamentary receptions have been held in England, Scotland and Wales.

Alastair Kent, chair of Rare Disease UK, said: "Our new reports demonstrate how important it is to listen to patient experience and to use that knowledge to improve services, support and information for patients and families affected by rare diseases.

"Such families across the UK are, in many cases, not receiving the optimal care that could be offered and as a consequence the costs to the NHS rise."

Five Rare Diseases You May Not Have Heard Of:

Alstrom Syndrome:

Alstrom Syndrome is a genetic condition that affects many parts of the body. At present, Alstrom Syndrome International has identified 800 individuals with the disease in 54 countries.

Symptoms normally present themselves from infancy, but Alstrom Syndrome is often not detected until later as doctors tend to see symptoms as separate problems.

The disease presents itself in many ways; through heart failure, light sensitivity or vision problems, obesity, developmental delays, loss of hearing and liver and kidney problems.

People with Alstrom Syndrome rarely live beyond the age of 50.

Fibrodysplasia ossificans progressiva (FOP):

FOP affects around one person in every two million. It is a disease that affects the connective tissue and effectively turns muscle into bone when tissue is damaged, leaving sufferers restricted in their movement.

The disease often starts in the neck and shoulders, then progresses through the back, trunk and limbs. Initial symptoms include short, bent and occasionally inward-turned big toes - which can be seen from birth.

There is no cure for FOP as surgery to remove the excess bone causes the body to produce even more. The average life expectancy is around 40.

Microcephaly:

Microcephaly is a neurological condition where an infant's head is significantly smaller than a healthy child's head. It normally results in the brain developing abnormally in the womb or not growing after birth.

There is no treatment for microcephaly but early intervention can help a child's development and improve their quality of life.

It affects around one in every 25,000 children and their life expectancy is normally reduced.

Harlequin-type ichthyosis:

Also known as Harlequin baby, Harlequin-type ichthyosis is a severe genetic disorder that mainly affects the skin. Babies are born with thick, hard skin covering most of their bodies.

The skin forms large, diamond-shaped plates separated by cracks. This affects the shape of facial features and restricted movement of the chest that can result in respiratory failure.

The disease also makes it more difficult for infants to control water loss, regulate their body temperature and fight infections.

Many babies affected by Harlequin-type ichthyosis do not survive.

Hutchinson-Gilford Progeria Syndrome:

Hutchinson-Gilford Progeria Syndrome is a genetic disease characterised by the dramatic, rapid appearance of ageing, starting from childhood.

It is extremely rare and is thought to affect around one in every four million newborns worldwide.

The name is derived from Greek and means prematurely old.

Babies with the disease appear healthy at birth but begin displaying symptoms at between 18 and 24 months.

Signs include growth failure, loss of body fat and hair, aging skin, stiff joints, heart disease, stroke, hip dislocation and arterial disease. Average life expectancy is 13.